Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
about
Autosomal dominant polycystic kidney disease: the last 3 yearsThe Role of G-Protein-Coupled Receptor Proteolysis Site Cleavage of Polycystin-1 in Renal Physiology and Polycystic Kidney DiseaseFunction and regulation of TRPP2 ion channel revealed by a gain-of-function mutantNew mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.Determinants of renal disease variability in ADPKD.Diagnosis and screening of autosomal dominant polycystic kidney disease.A missense mutation in PKD1 attenuates the severity of renal diseaseHigh Resolution Melt analysis for mutation screening in PKD1 and PKD2.Novel functional complexity of polycystin-1 by GPS cleavage in vivo: role in polycystic kidney diseaseMolecular diagnostics for autosomal dominant polycystic kidney diseasePolycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment.Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney diseaseMolecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations.Analysis of the REJ Module of Polycystin-1 Using Molecular Modeling and Force-Spectroscopy TechniquesEvidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease.System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.Hereditary polycystic kidney disease: genetic diagnosis and counseling.Renal transplantation in autosomal dominant polycystic kidney disease.DNA testing for live kidney donors at risk for autosomal dominant polycystic kidney disease.Unified criteria for ultrasonographic diagnosis of ADPKD.When a module is not a domain: the case of the REJ module and the redefinition of the architecture of polycystin-1.Family history of renal disease severity predicts the mutated gene in ADPKD.Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease.Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.Can we further enrich autosomal dominant polycystic kidney disease clinical trials for rapidly progressive patients? Application of the PROPKD score in the TEMPO trial.The Genetic and Cellular Basis of Autosomal Dominant Polycystic Kidney Disease-A Primer for Clinicians.Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
P2860
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P2860
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Evaluating the clinical utilit ...... for polycystic kidney disease.
@ast
Evaluating the clinical utilit ...... for polycystic kidney disease.
@en
type
label
Evaluating the clinical utilit ...... for polycystic kidney disease.
@ast
Evaluating the clinical utilit ...... for polycystic kidney disease.
@en
prefLabel
Evaluating the clinical utilit ...... for polycystic kidney disease.
@ast
Evaluating the clinical utilit ...... for polycystic kidney disease.
@en
P2093
P2860
P1476
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease
@en
P2093
Christopher M Palatucci
Erica Allen
Jeffrey G Jones
Miguel A Garcia-Gonzalez
Sat D Batish
Susan K Allen
Terry J Watnick
William K Seltzer
Xose M Lens
P2860
P304
P356
10.1016/J.YMGME.2007.05.004
P577
2007-06-18T00:00:00Z